Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA
gene, localized on chromosome 17 and encoding for acid alpha-1, 4-glucosidase (GAA) …

Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA
gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical …

Pompe disease, also known as glycogen storage disease type II, is caused by the lack or
deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac …

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease for which the
pathophysiological mechanisms of motor neuron loss are not precisely clarified …

Pompe disease (MIM# 232300) is an autosomal recessive lysosomal glycogen storage
disorder first described in 1932 (1) and it is caused by biallelic mutations in the GAA gene …

Some non-coding RNAs are abnormally expressed during the occurrence and development
of diseases, so it is necessary to develop analytical methods that can specifically and …

Pompe disease is characterized by a deficiency of acid alpha‐glucosidase that results in
muscle weakness and a variable degree of disability. There is an approved therapy based …

Background Pompe disease is an autosomal recessive inherited metabolic disorder caused
by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an …

Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic
disorders occurring mostly in infancy and childhood, characterized by a gradual …